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Embryology of the Spinal Cord, Peripheral Nerves, and Vertebrae
Published in Bernard J. Dalens, Jean-Pierre Monnet, Yves Harmand, Pediatric Regional Anesthesia, 2019
Bernard J. Dalens, Jean-Pierre Monnet, Yves Harmand
In stage 9 (1.5- to 2-mm embryos, 19 to 20 d), the neural plate is curled (Figure 1.4). The embryonic disc elongates and the primitive streak and Hensen’s node appear to be carried caudad, since the cephalic area grows more rapidly. The embryo changes its shape, becoming first oval, then pear shaped. At this stage, the neural groove is in close contact with the notochord. Mesenchymatous cells of both sides of the notochord (paraxial mesoderm) show intense mitotic activity and differentiate as paired blocks of cells, the somites. This fundamental aspect of metamerism of the body does not occur in the paraxial mesoderm of the cephalic area.
Neurological disorders
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
Clinically, most dysfunctions in development are due to an abnormal closure of the neural groove. If the neural groove does not close properly at the cranial end, the whole forebrain, skull, and scalp will be missing. The child is stillborn, or death usually occurs within hours. This condition is termed anencephaly (“no brain”).
The embryonic period
Published in Frank J. Dye, Human Life Before Birth, 2019
The first indication of neurulation is the formation of a thickened region, the neural plate, in the ectoderm above the notochord. After its appearance, the midregion of the neural plate sinks inward, converting the plate into a neural groove flanked by two neural folds. Gradually, these folds come together in the midline and fuse to begin the formation of the neural tube (Figure 8.9A).
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report
Published in Hearing, Balance and Communication, 2020
Flavio Faletra, Anna Morgan, Sara Ghiselli, Flora Maria Murru, Giorgia Girotto
ADGRV1 is a gene involved in Usher type 2 syndrome (MIM#: 605472; ORPHA: 231178), a rare disease characterised by sensorineural HL with or without vestibular problems, and retinitis pigmentosa (RP). Mutations in this gene are generally correlated with sensorineural hearing deficiencies at birth and later onset of progressive RP, this last one, a condition not already manifested in our patient, considering her young age. Interestingly, in mouse models, this gene is highly expressed in the neural groove and the neuroepithelium [2]. Furthermore, literature data showed that mutations in ADGRV1 have also been associated with different brain abnormalities (patient IT_FLO_020 in [3,4] and different neuropsychiatric manifestations/disorders including epilepsy and/intellectual disability [3,5] thus might explain the presence of the brain abnormalities identified in our patient.